Related Experiment Video
Updated: May 20, 2026
08:00
Observation of the Ciliary Movement of Choroid Plexus Epithelial Cells Ex Vivo
Published on: July 13, 2015
Ciliary disorder of the skeleton.
Celine Huber1, Valerie Cormier-Daire
1Département de génétique, INSERM U 781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), 75015 Paris, France.
Summary
Primary cilia are crucial for skeletal development and hedgehog pathway signaling. Mutations in cilia-related genes cause various ciliopathies, highlighting the need for targeted genetic analysis.
Area of Science:
- Genetics
- Developmental Biology
- Molecular Biology
Background:
- Primary cilia are essential cellular organelles involved in signal transduction.
- Ciliopathies, disorders linked to primary cilia dysfunction, encompass numerous skeletal dysplasias.
- The hedgehog pathway, critical for skeletal development, relies on primary cilia function.
Purpose of the Study:
- To review skeletal conditions classified as ciliopathies.
- To identify genes associated with skeletal ciliopathies.
- To discuss the genetic basis and clinical variability of these disorders.
Main Methods:
- Literature review focusing on ciliopathies and skeletal development.
- Analysis of identified genes implicated in skeletal ciliopathies.
- Discussion of genetic mutation types and their impact.
Main Results:
- Ten genes have been identified in seven distinct skeletal ciliopathies.
- Mutations identified in genes affecting dynein motor, intraflagellar transport (IFT) complexes, and basal body components.
- Significant clinical variability exists even for mutations in the same ciliopathy gene.
Conclusions:
- Primary cilia play a vital role in skeletal development.
- Genetic defects in cilia machinery underlie a spectrum of skeletal ciliopathies.
- Exome sequencing strategies targeting cilia genes are crucial for diagnosing this heterogeneous group of disorders.
Related Concept Videos
01:05Mechanism of Ciliary Motion
The ciliary structures were first seen in 1647 by Antonie Leeuwenhoek while observing the protozoans. In lower organisms, these appendages are responsible for cell movement, while in higher organisms, these appendages help in the movement of the extracellular fluids within the body cavities.
The cilia are made up of microtubules in a 9+2 arrangement, with nine microtubule doublet ring bundles, surrounding a pair of central singlet microtubule bundles. The doublet microtubule bundles are...
The cilia are made up of microtubules in a 9+2 arrangement, with nine microtubule doublet ring bundles, surrounding a pair of central singlet microtubule bundles. The doublet microtubule bundles are...
01:05Mechanism of Ciliary Motion
The ciliary structures were first seen in 1647 by Antonie Leeuwenhoek while observing the protozoans. In lower organisms, these appendages are responsible for cell movement, while in higher organisms, these appendages help in the movement of the extracellular fluids within the body cavities.
The cilia are made up of microtubules in a 9+2 arrangement, with nine microtubule doublet ring bundles, surrounding a pair of central singlet microtubule bundles. The doublet microtubule bundles are...
The cilia are made up of microtubules in a 9+2 arrangement, with nine microtubule doublet ring bundles, surrounding a pair of central singlet microtubule bundles. The doublet microtubule bundles are...
01:28Disorders of the Skeletal Muscle
The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
01:17Accessory Structures of the Eye
Optical perception, or vision, is an extraordinary sense dependent on converting light signals received via the ocular organs. These organs, known as eyes, are securely positioned within the bony cavities of the skull, called orbits. The orbits serve a dual purpose: a protective shield for the ocular globes and a stable attachment point for the soft ocular tissues. The eye's external protective mechanisms include the eyelids, which are edged with lashes that act as a barrier against foreign...
01:22Sutures of the Skull
The human skull is composed of several bones that come together to protect the brain and support the structures of the face. The junctions where these bones meet are called sutures.
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
01:22Photoreceptors and Visual Pathways
At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category, whereas...